TPSAB1 (tryptase alpha/beta 1)

2007-02-01  

Identity

HGNC
TPSAB1
LOCATION
16p13.3
LOCUSID
7177
ALIAS
TPS1,TPS2,TPSB1,TPSB2,Tryptase-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7177
MIM: 191080
HGNC: 12019
Ensembl: ENSG00000172236

Variants:

dbSNP: 7177
ClinVar: 7177
TCGA: ENSG00000172236
COSMIC: TPSAB1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000172236ENST00000338844Q15661
ENSG00000172236ENST00000461509J3QTS8
ENSG00000172236ENST00000561736A0A0C4DGM1

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
100
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Degradation of the extracellular matrixREACTOMER-HSA-1474228
Activation of Matrix MetalloproteinasesREACTOMER-HSA-1592389

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
378189902024Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals.4
378189902024Clinical impact of the TPSAB1 genotype in mast cell diseases: A REMA study in a cohort of 959 individuals.4
327172522021Heritable risk for severe anaphylaxis associated with increased α-tryptase-encoding germline copy number at TPSAB1.58
327778172021Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.47
327172522021Heritable risk for severe anaphylaxis associated with increased α-tryptase-encoding germline copy number at TPSAB1.58
327778172021Hereditary α tryptasemia is a valid genetic biomarker for severe mediator-related symptoms in mastocytosis.47
327091522020Mast Cell β-Tryptase Is Enzymatically Stabilized by DNA.10
327091522020Mast Cell β-Tryptase Is Enzymatically Stabilized by DNA.10
306412662019Tissue engineered human prostate microtissues reveal key role of mast cell-derived tryptase in potentiating cancer-associated fibroblast (CAF)-induced morphometric transition in vitro.21
312092392019Adipose Tissue Mast Cells Promote Human Adipose Beiging in Response to Cold.21
313377362019Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.32
306412662019Tissue engineered human prostate microtissues reveal key role of mast cell-derived tryptase in potentiating cancer-associated fibroblast (CAF)-induced morphometric transition in vitro.21
312092392019Adipose Tissue Mast Cells Promote Human Adipose Beiging in Response to Cold.21
313377362019Impact of naturally forming human α/β-tryptase heterotetramers in the pathogenesis of hereditary α-tryptasemia.32
275450652017Humoral and cellular responses to casein in patients with food protein-induced enterocolitis to cow's milk.26

Citation

Dessen P

TPSAB1 (tryptase alpha/beta 1)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45901